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Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment.
[benign recurrent intrahepatic cholestasis]
Benign
recurrent
intrahepatic
cholestasis
type
1
(
BRIC
-
1
)
,
a
rare
autosomal
recessive
disorder
characterized
by
recurrent
episodes
of
jaundice
and
pruritus
,
is
caused
by
mutations
in
the
ATP
8
B
1
gene
.
Rifampicin
has
been
reported
to
be
an
effective
treatment
of
jaundice
and
pruritus
in
patients
with
BRIC
.
Proposed
mechanisms
of
effect
for
rifampicin
include
enhancement
of
multidrug-resistance
protein
2
expression
,
activation
of
the
enzymes
of
uridine
diphosphate
glucuronosyltransferase
1
A
1
and
cytochrome
P
450
3
A
4
,
and
stimulation
of
6
α-hydroxylation
of
bile
acids
.
To
confirm
the
diagnosis
of
BRIC
-
1
and
demonstrate
the
effect
of
rifampicin
treatment
on
bile
acid
metabolism
,
we
analyzed
the
patient
's
ATP
8
B
1
gene
and
bile
acids
in
urine
.
We
detected
2
heterozygous
mutations
in
the
ATP
8
B
1
gene
,
and
increasing
amounts
of
unusual
bile
acids
such
as
1
β-hydroxylated
cholic
acid
,
2
β-hydroxylated
cholic
acid
,
4
β-hydroxylated
cholic
acid
,
6
α-hydroxylated
cholic
acid
,
and
hyocholic
acid
in
urine
during
rifampicin
treatment
.
We
diagnosed
a
jaundiced
pediatric
patient
with
BRIC
-
1
caused
by
2
novel
mutations
(
1226
delA
/
2210
delA
)
in
the
ATP
8
B
1
gene
.
Rifampicin
was
effective
in
treating
cholestasis
.
Results
of
urinary
bile
acid
analyses
during
rifampicin
treatment
in
this
patient
,
suggested
that
rifampicin
might
stimulate
1
β-
,
2
β-
,
and
4
β-hydroxylation
of
bile
acids
in
addition
to
6
α-hydroxylation
.
Diseases
Validation
Diseases presenting
"intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
zellweger syndrome
This symptom has already been validated
